Canonical Allele Identifier: CA425671091

Gene: EIF2AK2 ARL14EPP1

Linked Data

• dbSNP Id: rs1317469536
• gnomAD v4: 2-37149214-G-A
• MyVariant Identifiers: chr2:g.37376357G>A (hg19) ; chr2:g.37149214G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37149214G>A , CM000664.2:g.37149214G>A	GRCh38
NC_000002.11:g.37376357G>A , CM000664.1:g.37376357G>A	GRCh37
NC_000002.10:g.37229861G>A	NCBI36
NG_030351.1:g.12834C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233057.9:c.-183-191C>T (EIF2AK2) MANE Select	ENSP00000233057.4:n.-183-191C>T
ENST00000411537.7:n.29-191C>T (EIF2AK2)
ENST00000679507.1:c.-16-1392C>T (EIF2AK2)	ENSP00000506024.1:n.-16-1392C>T
ENST00000679979.1:c.-183-191C>T (EIF2AK2)	ENSP00000506455.1:n.-183-191C>T
ENST00000680273.1:c.-183-191C>T (EIF2AK2)	ENSP00000506203.1:n.-183-191C>T
ENST00000681329.1:n.157-191C>T (EIF2AK2)
ENST00000681463.1:c.-75-299C>T (EIF2AK2)	ENSP00000505138.1:n.-75-299C>T
ENST00000681507.1:c.-99-275C>T (EIF2AK2)	ENSP00000505772.1:n.-99-275C>T
ENST00000233057.8:c.-183-191C>T (EIF2AK2)	ENSP00000233057.4:n.-183-191C>T
ENST00000390013.3:c.-99-275C>T (EIF2AK2)	ENSP00000374663.3:n.-99-275C>T
ENST00000395127.6:c.-374C>T (EIF2AK2)	ENSP00000378559.2:n.-374C>T
ENST00000411537.6:c.-75-299C>T (EIF2AK2)	ENSP00000393921.2:n.-75-299C>T
ENST00000412776.1:n.685G>A (ARL14EPP1)
NM_001135651.2:c.-183-191C>T (EIF2AK2)	NP_001129123.1:n.-183-191C>T
NM_002759.3:c.-374C>T (EIF2AK2)	NP_002750.1:n.-374C>T
XM_011532987.1:c.-99-275C>T (EIF2AK2)	XP_011531289.1:n.-99-275C>T
XM_011532987.2:c.-99-275C>T (EIF2AK2)	XP_011531289.1:n.-99-275C>T
XM_017004503.1:c.-183-191C>T (EIF2AK2)	XP_016859992.1:n.-183-191C>T
NM_001135651.3:c.-183-191C>T (EIF2AK2) MANE Select	NP_001129123.1:n.-183-191C>T
NM_002759.4:c.-374C>T (EIF2AK2)	NP_002750.1:n.-374C>T